Hirschsprung disease, or congenital megacolon, is characterized by aganglionosis of the terminal bowel, which leads to intestinal obstruction and chronic constipation. Several genes involved in the disease have been identified. In particular, haploinsufficiency of SOX10, which encodes a transcription factor, results in megacolon, often in combination with other disorders. Although Hirschsprung ...

Hirschsprung's disease (HSCR) is characterized by the absence of autonomic ganglion cells in the terminal bowel and is a relatively common cause of intestinal obstruction in the newborn. The incidence of HSCR is estimated to be 1 in 5000 live births. Recently, the endothelin-B receptor (EDNRB) gene has been shown as a susceptibility gene for HSCR by the production of aganglionic colon in mice w...

Cultures of dissociated foetal and postnatal mouse gut gave rise to neurosphere-like bodies, which contained large numbers of mature neurons and glial cells. In addition to differentiated cells, neurosphere-like bodies included proliferating progenitors which, when cultured at clonal densities, gave rise to colonies containing many of the neuronal subtypes and glial cells present in the mammali...

Abstract Background Functional disturbances of the gastrointestinal tract are caused by a number neurodysplastic conditions, including diseases that rarer than Hirschsprung’s disease (HSCR), such as ganglion cell immaturity and intestinal neuronal dysplasia (IND). Bcl-2 shows positive immunoreactivity in degenerative immature cells (IGCs). This work evaluates implication immunohistochemical exp...

Hirschsprung's disease is congenital anomaly of the intestine and Harald Hirschsprung gave the first description of this disease'. The aim of this follow-up study was to evaluate the results of Rehbein's procedure in the treatment of Hirschsprung's disease in the last 30 years in Children's Hospital Zagreb. Hirschsprung's disease is congenital intestinal aganglionosis as the results of arrested...

Hirschsprung disease (HSCR, OMIM 142623) is a developmental disorder characterized by the absence of ganglion cells along variable lengths of the distal gastrointestinal tract, which results in tonic contraction of the aganglionic gut segment and functional intestinal obstruction. The RET proto-oncogene is the major gene for HSCR with differential contributions of its rare and common, coding an...

WNT3A has been regarded as an activator of the canonical Wnt signaling pathway. It has been found Wnt signaling pathway is closely related with embrionic development and Hirschsprung disease (HSCR). A common haplotype consisting of minor SNPs alleles located in the WNT3A gene has been described as a risk factor for various genetic disorders. However, whether WNT3A contributes to the onset of HS...

PURPOSE The aim of this study was to investigate the expression and significance of neuroligins in myenteric cells of Cajal (ICC-MY) in Hirschsprung's disease (HSCR). METHODS Longitudinal muscle with adherent myenteric plexus (LMMP) from surgical excision waste colon of HSCR children were prepared by peeling off the mucous layer, sub-mucosal layer and circular muscle. Neuroligins, c-Kit (c-Ki...

Introduction: The aim of this study is to determine the incidence, morbidity and functional outcome of two techniques for Hirschsprung disease (single-stage Duhamel pull-through and tans-anal pull-through) in the neonatal age group. Method: All the neonates with Hirschsprung disease with short aganglionic segment (transition zone at recto-sigmoid junction) admitted during the last 6 years were ...